NM_013326.5:c.144T>C
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_013326.5(RMC1):c.144T>C(p.Val48Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V48V) has been classified as Likely benign.
Frequency
Consequence
NM_013326.5 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RMC1 | NM_013326.5 | c.144T>C | p.Val48Val | synonymous_variant | Exon 2 of 20 | ENST00000269221.8 | NP_037458.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RMC1 | ENST00000269221.8 | c.144T>C | p.Val48Val | synonymous_variant | Exon 2 of 20 | 1 | NM_013326.5 | ENSP00000269221.2 | ||
RMC1 | ENST00000590868.5 | c.144T>C | p.Val48Val | synonymous_variant | Exon 2 of 18 | 2 | ENSP00000467007.1 | |||
RMC1 | ENST00000615148.5 | c.144T>C | p.Val48Val | synonymous_variant | Exon 2 of 20 | 5 | ENSP00000482573.2 | |||
RMC1 | ENST00000589215.5 | n.144T>C | non_coding_transcript_exon_variant | Exon 2 of 19 | 2 | ENSP00000467852.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251490 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461854Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727232 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at